27: Jay Griffin Discusses His Struggles Getting Treatment for His Son With DMD
12m Apr 11, 2022
12m
Meredith O'Connor on Her Work Raising Awareness of Myasthenia Gravis
Larry Luxner, senior correspondent for Rare Disease Advisor, talks with Meredith O’Connor, a patient advocate and founder of a chronic illness consultancy, about her efforts to raise awareness of myasthenia gravis.
8m Apr 06, 2022
8m
26: Dr. Courtney Young Discusses Her Company’s Approach to Treating DMD
8m Mar 30, 2022
8m
25: Dr. Henry Lin on the Difficulty of Diagnosing LAL-D in Children
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Henry Lin, MD, a pediatric hepatologist with Oregon Science & Health University in Portland. Dr. Lin speaks about the difficulty of diagnosing lysosomal acid lipase deficiency (LAL-D) in children.
8m Mar 23, 2022
8m
24: An Interview With Dr. Albert Faro, vice president for clinical affairs at the Cystic Fibrosis Foundation
14m Mar 22, 2022
14m
23: An Interview With Christine Há, award-winning chef and NMOSD patient
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Christine Há — a blind chef who not only won Season 3 of the reality TV show "MasterChef" in 2012 but went on to write a bestselling cookbook and later opened two restaurants in Houston, Texas. Há, who has neuromyelitis optica spectrum disorder, is the public face of the new campaign "NMOSD Won't Stop Me."
12m Mar 16, 2022
12m
22: Dr. Reham Abdel-Wahab Discusses Cholangiocarcinoma Therapies and Possible Future Advances
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Reham Abdel-Wahab, MD, PhD, chief scientific officer of the Cholangiocarcinoma Foundation. Dr. Abdel-Wahab discusses recently approved therapies for this rare, aggressive bile duct cancer as well as new advances that may offer hope to patients with the disease.
12m Mar 07, 2022
12m
21: An Interview With Lisa Phelps Sarfaty of the National Organization for Rare Disorders Ahead of Rare Disease Day
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Lisa Phelps Sarfaty ahead of February 28, Rare Disease Day. Sarfaty is vice president of community engagement at the National Organization for Rare Disorders (NORD), a coalition of 330 patient advocacy groups and the leading voice for an estimated 25 million Americans with rare and debilitating illnesses.
10m Feb 24, 2022
10m
20: An Interview With Evanthia Bernitsas, Director of the Multiple Sclerosis Treatment and Immunology Clinical Research Center at Wayne State University
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Evanthia Bernitsas, MD, director of the Multiple Sclerosis Treatment and Immunology Clinical Research Center at Wayne State University in Detroit, Michigan. Dr. Bernitsas is an expert on NMOSD and its effect on patients of African origin.
13m Feb 08, 2022
13m
19: An Interview With Nicola Longo, MD, PhD,professor of pediatrics and chief of the University of Utah's Division of Medical Genetics in Salt Lake City.
6m Feb 01, 2022
6m
18: An Interview With MeiLan K. Han, MD, MS, chief of the University of Michigan’s Division of Pulmonary & Critical Care.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews MeiLan K. Han, MD, chief of the University of Michigan’s Division of Pulmonary & Critical Care in Ann Arbor. Dr. Han, a spokeswoman for the American Lung Association, leads groundbreaking research on oxygen delivery in chronic lung disease and has also written a book on the subject.
14m Jan 21, 2022
14m
17: An Interview With Sigbjørn Berentsen, MD, PhD, a hematologist and senior researcher at Norway’s Haugesund Hospital.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Sigbjørn Berentsen, MD, PhD, a hematologist and senior researcher at Norway’s Haugesund Hospital. Dr. Berentsen is an expert in the role of carnitine in regulating LCFAOD.
9m Jan 13, 2022
9m
16: An Interview With Researcher Adrian Krainer, PhD, From the Cold Spring Harbor Laboratory in New York.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews researcher Adrian Krainer, PhD, from the Cold Spring Harbor Laboratory in New York. Dr. Krainer perfected the RNA splicing technique that led to the development of nusinersen, the first treatment for spinal muscular atrophy.
14m Jan 05, 2022
14m
15: An interview With Michael Yeaman, PhD, chief medical advisor to the Guthy-Jackson Charitable Fund
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Michael Yeaman, PhD, chief medical advisor to the Guthy-Jackson Charitable Fund, based in Los Angeles. Dr. Yeaman speaks about neuromyelitis optica spectrum disorder (NMOSD), a rare autoimmune disease that was once thought to be a form of multiple sclerosis.
9m Dec 08, 2021
9m
14: An Interview With Donald S. Wood, PhD, president and CEO of the Muscular Dystrophy Association
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Donald S. Wood, PhD, president and CEO of the Muscular Dystrophy Association (MDA). Their conversation focuses on the latest therapies for Duchenne muscular dystrophy, Pompe disease, and spinal muscular atrophy, and on the upcoming 2022 MDA Clinical & Scientific Conference.
13m Nov 29, 2021
13m
13: Advocating for Patients and Families Affected by Cold Agglutinin Disease
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Cori Forster, vice-president of the Cold Agglutinin Disease Foundation (CADF) — a nonprofit organization formed to advocate for patients and families affected by CAD. We also talk about research on new therapies for this extremely rare anemic disorder.
13m Nov 18, 2021
13m
12: Kamada CEO Amir London Discusses the Company's Work on AATD Therapies
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Amir London, CEO of Israel's Kamada — a major biopharmaceutical company that already has an FDA-approved therapy for alpha-1 antitrypsin deficiency, and is now pursuing an inhaled AAT drug for the same disease.
9m Nov 09, 2021
9m
11: Endocrine Surgeon Dr. Haggi Mazeh Describes the Challenges of Treating MTC
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Dr. Haggi Mazeh, an endocrine surgeon at Hebrew University's Hadassah Medical Center in Jerusalem. Dr. Mazeh, one of Israel's top experts on thyroid cancer, talks extensively about the challenges of treating medullary thyroid carcinoma.
12m Nov 03, 2021
12m
10: Harsha K. Rajasimha, PhD, on Making Clinical Trials More Inclusive
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Harsha K. Rajasimha, PhD, in Herndon, Virginia. Dr. Rajasimha cofounded the Organization for Rare Diseases India and is now CEO of Jeeva Informatics, which aims to improve the diversity, equity, and inclusion (DE&I) of patients in clinical trials worldwide.
16m Oct 26, 2021
16m
9: Yale University professor Dr. Naftali Kaminski discusses a new consortium for pulmonary fibrosis with senior correspondent Larry Luxner
Larry Luxner, senior correspondent for Rare Disease Advisor, talks to pulmonologist Naftali Kaminski, MD, professor of medicine and pharmacology and chief of Pulmonary, Critical Care and Sleep Medicine at Yale University School of Medicine in New Haven, Connecticut. Dr. Kaminski discusses the recently announced Three Lakes Consortium for Pulmonary Fibrosis (TLC4PF), a consortium involving the T...
12m Oct 21, 2021
12m
8: Durhane Wong-Rieger, PhD, Discusses the Challenges Faced by Rare Disease Patients in Canada
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Durhane Wong-Rieger, PhD, president and CEO of the Canadian Organization for Rare Disorders (CORD) and chair of Rare Diseases International (RDI). Dr. Wong-Rieger talks about the challenges of diagnosing and treating diseases in Canada, as well as advancing access to therapies around the globe.
15m Oct 13, 2021
15m
7: A Discussion on Medullary Thyroid Carcinoma With Dr. David Goldenberg
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews David Goldenberg, MD, FACS, a surgical oncologist, and professor and chair of the department of otolaryngology-head and neck surgery at Penn State College of Medicine in Hershey, Pennsylvania. Dr. Goldenberg has just published the latest edition of his book, Endocrine Surgery of the Head and Neck, a significant portion of w...
13m Oct 06, 2021
13m
The Pursuit of Redosable Gene Therapies for Hemophilia with Dr. Doug Kerr
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Doug Kerr, MD, PhD, chief medical officer at Generation Bio in Cambridge, Massachusetts. The company is aggressively pursuing redosable gene therapies for hemophilia and other rare diseases.
21m Sep 24, 2021
21m
Perspectives on Long Chain Fatty Oxidation Disorder With Dr. Jerry Vockley
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jerry Vockley, MD, PhD, chief of medical genetics at Pennsylvania's UPMC Children's Hospital of Pittsburgh. Dr. Vockley is also the founder of INFORM, the International Network for Fatty Acid Oxidation Research and Management, which will hold its next annual conference virtually Oct. 27-28.
25m Sep 23, 2021
25m
6: Dr. Hagit Baris-Feldman Discusses Israel's Burgeoning Role in Rare Disease Clinical Research
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Hagit Baris-Feldman, MD, director of the Genetics Institute at Israel's Tel Aviv Sourasky Medical Center. Dr. Baris-Feldman, who also chairs the Israel Medical Genetics Association and is an associate professor at Tel Aviv University's Sackler Faculty of Medicine, talks about why Israel has emerged as a global leader in the...
13m Sep 22, 2021
13m
5: Dr. Noah Greenspan Discusses on the Diagnosis and Treatment of Patients With PAH
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Noah Greenspan, DPT, founder of New York City's Pulmonary Wellness & Rehabilitation Center. Dr. Greenspan, who also runs the nonprofit Pulmonary Wellness Foundation, talks about diagnosing and treating pulmonary arterial hypertension.
17m Sep 17, 2021
17m
Dr. Barry Byrne on Recent Developments in Pompe Disease
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Barry Byrne, MD, director of the University of Florida's Powell Gene Therapy Center in Gainesville. Dr. Byrne has spent years researching potential gene therapies for Pompe disease, comments on the FDA's recent approval of avalglucosidase alfa-ngpt (Nexviazyme) to treat Pompe.
14m Sep 13, 2021
14m
4: Dr. Eric Olson Discusses the Use of Gene Therapy in the Treatment of Duchenne Muscular Dystrophy
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Eric Olson, PhD, chief scientific advisor at Vertex Pharmaceuticals and founding chair of the molecular biology department at the University of Texas-Southwestern Medical Center. Dr. Olson is an expert on Duchenne muscular dystrophy and CRISPR gene editing technology.
9m Sep 08, 2021
9m
3: An Interview With Dr. Edward Neilan, Chief Medical Officer at NORD
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Edward Neilan, MD, chief medical officer at the National Organization for Rare Disorders (NORD). This is a new position at NORD, which serves as the umbrella organization for some 330 disease-specific patient advocacy groups. NORD also sponsors the annual Rare Diseases and Orphan Products Breakthrough Summit, which this yea...
21m Sep 07, 2021
21m
An Update on LAL-D With Dr. Paul Martin of Nationwide Children's Hospital
15m Sep 01, 2021
15m
Insights From Dr. Noah Greenspan: Diagnosing and Treating IPF
23m Sep 01, 2021
23m
Advocating for People With Gastrointestinal Stromal Tumor
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Peter Knox, senior research director at the Life Raft Group. Based in Wayne, New Jersey, this organization was incorporated in 2002 and advocates for people with all forms of gastrointestinal stromal tumor, or GIST.
31m Aug 31, 2021
31m
2: Dr. Mark Brantly on Treating AATD and the Work of the Alpha-1 Foundation
Dr. Brantly is the vice-chair of research in the Department of Medicine at the University of Florida in Gainesville, and has spent most of his career researching a cure for alpha-1 antitrypsin deficiency (AATD).
12m Aug 17, 2021
12m
1: Ultragenyx CMO Dr. Camille Bedrosian Discusses the First FDA-Approved Treatment for LCFAOD
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Camille Bedrosian, MD, chief medical officer and executive vice president of Ultragenyx Pharmaceutical in Novato, California. Earlier this year, Ulragenyx won approval from the US Food and Drug Administration (FDA) for triheptanoin (Dojolvi®), a liquid medication that supplies medium-chain, odd-carbon fatty acids as an ener...
14m Aug 11, 2021
14m